Hereditary spastic paraplegia
Gene: MTPAPEnsemblGeneIds (GRCh38): ENSG00000107951
EnsemblGeneIds (GRCh37): ENSG00000107951
OMIM: 613669, Gene2Phenotype
MTPAP is in 17 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019Created: 3 May 2019, 8:37 a.m.
Chris Buxton (North Bristol NHS Trust)
2 entries on HGMD Pro
Crosby (2010, 20970105); variant proposed as cause of spastic paraplegia in Amish population as founder mutation.
p.N478D: Slowly progressive autosomal-recessive neurodegenerative condition, the key features of which
are cerebellar ataxia, spastic paraparesis, dysarthria, optic atrophy, learning difficulties.
Functional studies showed loss of polyadenylation of mitochondrial transcripts
Additional functional characterisation in Wilson (2014, 25008111)
Al-Shamsi (2016, 27391121)
Biparental, homozygous c.1468G > T (p.V490L). 2 sibs with developmental delay and regression at 8 months of age, central hypotonia, short stature, failure to thrive, cerebellar atrophy, absence-like episodes, and hip dislocation. Parents were heterozygous. no functional studies.Created: 27 Nov 2018, 11:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cerebellar ataxia; spastic paraparesis; dysarthria; optic atrophy; learning difficulties
Publications
emma baple (Genomics England Curator)
Created: 7 Feb 2016, 6:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
spastic ataxia
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Ataxia, spastic, 4
- Spastic ataxia 4, autosomal recessive
- OMIM
- 613669
- Clinvar variants
- Variants in MTPAP
- Penetrance
- Complete
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mitochondrial disorders
- Optic neuropathy
- COVID-19 research
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: mtpap has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MTPAP was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MTPAP was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MTPAP was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)MTPAP was added to Hereditary spastic paraplegiapanel. Sources: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)MTPAP was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen